Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. (Record no. 23349374)

MARC details
000 -LEADER
fixed length control field 01608 a2200529 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516184410.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201407s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1090-0535
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Bowne, Sara J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140721
245 00 - TITLE STATEMENT
Title Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular vision
Date of publication, distribution, etc. 2013
300 ## - PHYSICAL DESCRIPTION
Extent 2407-17 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cohort Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Introns
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Penetrance
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retinitis Pigmentosa
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ribonucleoproteins, Small Nuclear
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Severity of Illness Index
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sullivan, Lori S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Avery, Cheryl E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sasser, Elizabeth M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roorda, Austin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duncan, Jacque L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wheaton, Dianna H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Birch, David G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Branham, Kari E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heckenlively, John R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sieving, Paul A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Daiger, Stephen P
773 0# - HOST ITEM ENTRY
Title Molecular vision
Related parts vol. 19
-- p. 2407-17

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